Canonical Allele Identifier: CA061510

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329138
• ClinVar RCV Id: RCV000289632 ; RCV000328355 ; RCV000868705 ; RCV000415618 ; RCV001718688 ; RCV000385235
• dbSNP Id: rs773080803
• ExAC: 19:39075606 G / C
• gnomAD v2: 19-39075606-G-C
• gnomAD v3: 19-38584966-G-C
• gnomAD v4: 19-38584966-G-C
• MyVariant Identifiers: chr19:g.39075606G>C (hg19) ; chr19:g.38584966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584966G>C , CM000681.2:g.38584966G>C	GRCh38
NC_000019.9:g.39075606G>C , CM000681.1:g.39075606G>C	GRCh37
NC_000019.8:g.43767446G>C	NCBI36
NG_008866.1:g.156267G>C , LRG_766:g.156267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1606G>C
ENST00000688602.1:c.3003G>C
ENST00000689936.1:c.2975G>C
ENST00000692547.1:n.63G>C
ENST00000359596.8:c.14670G>C MANE Select	ENSP00000352608.2:p.Val4890=
ENST00000355481.8:c.14655G>C	ENSP00000347667.3:p.Val4885=
ENST00000359596.7:c.14670G>C	ENSP00000352608.2:p.Val4890=
ENST00000360985.7:c.14652G>C	ENSP00000354254.4:p.Val4884=
NM_000540.2:c.14670G>C , LRG_766t1:c.14670G>C	NP_000531.2:p.Val4890=
NM_001042723.1:c.14655G>C	NP_001036188.1:p.Val4885=
XM_006723317.1:c.14652G>C	XP_006723380.1:p.Val4884=
XM_006723319.1:c.14637G>C	XP_006723382.1:p.Val4879=
XM_011527204.1:c.14667G>C	XP_011525506.1:p.Val4889=
XM_011527205.1:c.14583G>C	XP_011525507.1:p.Val4861=
XM_006723317.2:c.14652G>C	XP_006723380.1:p.Val4884=
XM_006723319.2:c.14637G>C	XP_006723382.1:p.Val4879=
XM_011527205.2:c.14583G>C	XP_011525507.1:p.Val4861=
NM_000540.3:c.14670G>C MANE Select	NP_000531.2:p.Val4890=
NM_001042723.2:c.14655G>C	NP_001036188.1:p.Val4885=